Canonical Allele Identifier: CA1978919375
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752661G= , CM000673.2:g.64752661G= GRCh38
NC_000011.9:g.64520133G= , CM000673.1:g.64520133G= GRCh37
NC_000011.8:g.64276709G= NCBI36
NG_013018.1:g.13055C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1519-157C= MANE Select ENSP00000164139.3:n.1519-157C=
ENST00000164139.3:c.1519-157C= ENSP00000164139.3:n.1519-157C=
ENST00000377432.7:c.1255-157C= ENSP00000366650.3:n.1255-157C=
NM_001164716.1:c.1255-157C= NP_001158188.1:n.1255-157C=
NM_005609.2:c.1519-157C= NP_005600.1:n.1519-157C=
NM_005609.3:c.1519-157C= NP_005600.1:n.1519-157C=
NM_005609.4:c.1519-157C= MANE Select NP_005600.1:n.1519-157C=